Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Charcot-Marie-Tooth disease type 5 | MONDO_0010877 | [Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.] |
| thyroid nodule | EFO_1001436 | [A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR).] |
| recessive aplasia cutis congenita of limbs | MONDO_0010876 | [Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.] |
| CODAS syndrome | MONDO_0010879 | [Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.] |
| adult polyglucosan body disease | MONDO_0009897 | [Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.] |
| hereditary spastic paraplegia 6 | MONDO_0010878 | [Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.] |
| branchiooculofacial syndrome | MONDO_0007235 | [Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.] |
| keratoconus | MONDO_0015486 | [A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.] |
| postaxial polydactyly-dental and vertebral anomalies syndrome | MONDO_0009895 | [Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.] |
| autosomal dominant brachyolmia | MONDO_0007232 | [Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.] |
| Tachycardia, Reciprocating | EFO_1001432 | [Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE.] |
| short-rib thoracic dysplasia 6 with or without polydactyly | MONDO_0009894 | [A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.] |
| suppurative thyroiditis | EFO_1001431 | [Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS., Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis.] |
| Brachymorphism-onychodysplasia-dysphalangism syndrome | MONDO_0007230 | [Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.] |
| Sublingual Gland Neoplasms | EFO_1001430 | [Neoplasms of the sublingual glands., A neoplasm (disease) that involves the sublingual gland.] |
| brachytelephalangy-dysmorphism-Kallmann syndrome | MONDO_0007231 | [Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.] |
| Chuvash polycythemia | MONDO_0009892 | [Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.] |
| lethal hemolytic anemia-genital anomalies syndrome | MONDO_0010891 | [Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.] |
| acrocardiofacial syndrome | MONDO_0010890 | [Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.] |
| inborn disorder of fatty acid oxidation and ketone body metabolism | MONDO_0019223 |